Varaico: Literature-Extracted Genetic Variants

Gene:MRPL13
Variant:p.Y47C

MRPL13

53 papers

RefSeq Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit a...

Pfam Domains

Ribosomal_L13aa 16–134UCSCRibosomal protein L13

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L13

HGNC Alias Symbols

L13; L13mt; RPML13; L13A; uL13m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014078.6
p.Y47C
c.140A>G
Surrounding Variants
1 paper
NM_014078.6
p.L39R
c.116T>G
1 paper
NM_014078.6
p.R38*
c.112A>T
1 paper
NM_014078.6
p.I37R
c.110T>G
1 paper
NM_014078.6
p.K30E
c.88A>G
1 paper
NM_014078.6
p.P27P
c.81A>C
1 paper
NM_014078.6
p.D22Y
c.64G>T
1 paper
NM_014078.6
p.W18delFs
c.54delC
1 paper
NM_014078.6
p.W18fs
c.52_53fs
1 paper
NM_014078.6
p.R16K
c.47G>A
1 paper
NM_014078.6
p.A15G
c.44C>G
1 paper
NM_014078.6
p.A12T
c.34G>A
1 paper
NM_014078.6
p.A7A
c.21G>A
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